Вроджена мязова дистрофія з ураженням мозочка
ORPHA:370959· ICD-10 G71.2· Congenital muscular dystrophy with cerebellar involvement
Визначення(English summary)
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by proximal muscle weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts, and other structural brain anomalies.
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal